Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker CTD_human Ras signaling pathways mediate NGF-induced enhancement of excitability of small-diameter capsaicin-sensitive sensory neurons from wildtype but not Nf1+/- mice. 21501659

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin. 21089070

2011
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691

2009
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. 17160901

2007
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. 17668375

2007
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? 16735498

2006
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 15523642

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 12707950

2003
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402

2003
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 12522551

2003
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. 12552569

2003
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. 11857752

2002
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 11258625

2001
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. 11735023

2001
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker GENOMICS_ENGLAND Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931

2001
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000